Mutagenetix > Incidental Mutation

Incidental Mutation 'R0057:Emc8'

16936

Institutional Source

Beutler Lab

Gene Symbol

Emc8

Ensembl Gene

ENSMUSG00000031819

Gene Name

ER membrane protein complex subunit 8

Synonyms

Fam158b, Noc4, Cox4nb

MMRRC Submission

038351-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121380653-121394826 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 121385822 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034277] [ENSMUST00000127664] [ENSMUST00000180417] [ENSMUST00000181333] [ENSMUST00000181334] [ENSMUST00000181950]

AlphaFold

O70378

Predicted Effect

probably benign
Transcript: ENSMUST00000034277

SMART Domains

Protein: ENSMUSP00000034277
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	3	199	4.2e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180417

SMART Domains

Protein: ENSMUSP00000137767
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	103	1.4e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180909

Predicted Effect

probably benign
Transcript: ENSMUST00000181111

Predicted Effect

probably benign
Transcript: ENSMUST00000181333

SMART Domains

Protein: ENSMUSP00000137785
Gene: ENSMUSG00000097919

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	79	4.9e-29	PFAM
Pfam:DUF4597	93	155	2.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181334

SMART Domains

Protein: ENSMUSP00000137850
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	101	6.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181402

Predicted Effect

probably benign
Transcript: ENSMUST00000181836

Predicted Effect

probably benign
Transcript: ENSMUST00000181950

SMART Domains

Protein: ENSMUSP00000137970
Gene: ENSMUSG00000031819

Domain	Start	End	E-Value	Type
Pfam:UPF0172	1	74	1.7e-29	PFAM

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,832,385 (GRCm39)	F1309L	possibly damaging	Het
Abcc6	C	T	7: 45,669,567 (GRCm39)	A163T	probably benign	Het
Adam23	T	A	1: 63,610,078 (GRCm39)	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,556,156 (GRCm39)	F392L	probably damaging	Het
Ak9	A	T	10: 41,268,724 (GRCm39)	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,456,144 (GRCm39)		probably benign	Het
Arhgef10l	A	G	4: 140,338,529 (GRCm39)		probably benign	Het
Bloc1s6	T	A	2: 122,586,141 (GRCm39)		probably benign	Het
Caskin1	A	G	17: 24,723,870 (GRCm39)	N886S	probably damaging	Het
Celsr1	A	C	15: 85,914,963 (GRCm39)	S1003R	probably benign	Het
Ctse	G	T	1: 131,591,109 (GRCm39)	D97Y	probably damaging	Het
Cux1	T	A	5: 136,285,136 (GRCm39)	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,806,767 (GRCm39)	V490A	probably benign	Het
Dscam	A	C	16: 96,474,936 (GRCm39)	W1209G	probably damaging	Het
Entpd6	A	G	2: 150,600,748 (GRCm39)	K152R	probably null	Het
Eps8l2	C	T	7: 140,922,884 (GRCm39)	T49I	probably benign	Het
Fcsk	C	T	8: 111,620,400 (GRCm39)		probably benign	Het
Gm12251	C	A	11: 58,283,867 (GRCm39)		probably benign	Het
Gna11	A	G	10: 81,366,774 (GRCm39)	M312T	probably benign	Het
Hacd2	T	A	16: 34,895,997 (GRCm39)	V105D	probably damaging	Het
Il17a	T	A	1: 20,803,881 (GRCm39)	I92N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Irak4	A	C	15: 94,451,753 (GRCm39)	R115S	probably benign	Het
Jarid2	C	T	13: 45,038,332 (GRCm39)	H77Y	probably damaging	Het
Kcnk6	A	T	7: 28,925,088 (GRCm39)	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,276,217 (GRCm39)		probably benign	Het
Kremen2	A	C	17: 23,962,202 (GRCm39)	I210S	possibly damaging	Het
Ldah	T	C	12: 8,288,432 (GRCm39)		probably benign	Het
Lgals9	A	T	11: 78,862,262 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd4b4	T	A	10: 39,891,097 (GRCm38)		probably benign	Het
Msh4	C	T	3: 153,575,318 (GRCm39)	A686T	probably benign	Het
Mycbp2	T	C	14: 103,389,578 (GRCm39)	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,892,611 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,268 (GRCm39)	N79S	probably damaging	Het
Npsr1	A	T	9: 24,211,723 (GRCm39)	I84F	probably damaging	Het
Or52h1	G	T	7: 103,829,536 (GRCm39)	H26Q	probably benign	Het
Or5m10b	C	A	2: 85,699,597 (GRCm39)	Y220*	probably null	Het
Or6z5	T	C	7: 6,477,679 (GRCm39)	L190P	probably damaging	Het
Prlr	A	G	15: 10,328,509 (GRCm39)	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,610,357 (GRCm39)	S977P	probably benign	Het
Ros1	C	T	10: 52,056,287 (GRCm39)	V68I	probably benign	Het
Shmt2	G	A	10: 127,356,917 (GRCm39)	T31M	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Snrnp200	C	G	2: 127,079,827 (GRCm39)	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,400,356 (GRCm39)	C154*	probably null	Het
Tdrd6	G	A	17: 43,928,052 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,787,428 (GRCm39)	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,575,975 (GRCm39)		probably benign	Het
Top3a	C	T	11: 60,631,510 (GRCm39)	A951T	probably benign	Het
Tram2	C	T	1: 21,076,378 (GRCm39)	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,482,406 (GRCm39)	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,243,523 (GRCm39)	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,421,202 (GRCm39)		noncoding transcript	Het
Zfp770	T	A	2: 114,027,713 (GRCm39)	R119*	probably null	Het

Other mutations in Emc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Emc8	APN	8	121,385,745 (GRCm39)	missense	probably damaging	1.00
R1512:Emc8	UTSW	8	121,384,983 (GRCm39)	missense	possibly damaging	0.96
R1715:Emc8	UTSW	8	121,385,294 (GRCm39)	missense	probably benign	0.08
R3789:Emc8	UTSW	8	121,384,869 (GRCm39)	missense	probably benign	0.06
R4668:Emc8	UTSW	8	121,394,518 (GRCm39)	missense	probably damaging	1.00
R5418:Emc8	UTSW	8	121,385,342 (GRCm39)	missense	probably damaging	1.00
R7036:Emc8	UTSW	8	121,385,790 (GRCm39)	missense	probably benign	0.01
R7464:Emc8	UTSW	8	121,394,657 (GRCm39)	missense	possibly damaging	0.92
R7786:Emc8	UTSW	8	121,394,656 (GRCm39)	missense	probably damaging	0.99
R9525:Emc8	UTSW	8	121,394,656 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-01-20